Haifa scientists’ find may help millions

New DNA data could save people of African ancestry from failing kidneys.

February 12, 2010 17:23
3 minute read.

DNA 311. (photo credit: )

Forty million Americans have chronic (delete end-stage) kidney disease. About 500,000 of them have end-stage kidney disease (ESKD), as DO 5,000 Israelis. African- and Hispanic Americans have a double-to-quadruple risk for the fatal disorder, compared to Caucasians of European origin.

Now an Israeli research team has discovered new genetic data on a DNA region that could predict who will develop the disease, and eventually help millions of people of African ancestry, The Jerusalem Post has learned.

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So far, the only ways to prolong their lives are undergoing dialysis a few times a week or getting a kidney transplant.

The team, headed by Prof. Karl Skorecki – a nephrologist (kidney expert) at the Technion-Israel Institute of Technology’s Rappaport Medical Faculty and director of medical and research development at Haifa’s Rambam Medical Center – has just published a paper on the subject in the online edition of the prestigious journal Human Molecular Genetics; it will appear in the print edition in a few weeks.

The team’s findings so far, said Skorecki, can already advance the use of early genetic screening for people at high risk for the disorder so it can be prevented. Future comparative genetic research could help identify the specific mutation responsible for ESKD and provide a better understanding of what mechanism causes irreversible damage to the kidneys’ glomeruli (which filter out the toxins from the blood) – even leading to new medical treatments.

Skorecki, an autodidactic genetic researcher, became known worldwide over a decade ago when he showed that Jewish men who had been told by their fathers that they were of the priestly tribe shared the same type array of six chromosomal markers in their Y chromosomes. These patrilineal markers were found in both Sephardi and Ashkenazi kohanim, pointing to a common priestly tribe population origin before the Diaspora during the Roman Empire.

A year ago, two US research groups identified on Chromosome 22 a gene called MYH9, which has mutations that explain the high prevalence of ESKD among African-Americans (1,010 per million, compared with 520 per million among Hispanics and only 279 per million among whites of European origin).

The Skorecki team – which included Dr. Doron Behar and colleagues from Rambam, Tel Aviv University, Hadassah-University Medical Center in Jerusalem’s Ein Kerem and the US National Institutes of Health – went further and discovered important new genetic data that explained the high prevalence of the kidney disease among people of African origin. They also realized that Hispanic Americans, who have a combination of Central African, European and Native American ancestry, are therefore also at higher risk, but not as high as African-Americans, who have mostly genes of Central African origin. About 30 percent of the global genetic ancestry among Hispanic Americans could be attributed to the African genetic component, they wrote.

Skorecki told the Post on Thursday that his team had previously found that Ethiopian Jews did not share the higher risk for the disease, thus hinting that they might not have the Central African DNA makeup that predisposes people to ESKD. The team is now testing this in Ethiopia and Israel.

As previous researchers had found no influence of socioeconomic conditions in causing ESKD to break out, the Skorecki team decided to look at genetic factors. They examined the genomes of 1,425 African- and Hispanic (Puerto Rican, Dominican and other) American adults treated in dialysis and ambulatory clinics in New York City and compared them with a control group of mostly healthy but elderly black and Hispanic Americans living in nursing homes, who were past the age of developing ESKD. These people were descendants of the 12 million African slaves brought to North America hundreds of years ago.

Skorecki told the Post that he had been in touch with representatives of the Negev’s non-Jewish community of Black Hebrews, who came here decades ago from the US. The Black Hebrews – whose ancestry is 85% African and the rest European – will come to see him in Haifa so he can check whether they also have the African risk variants. They claim to be healthy and not to suffer from a significant amount of kidney disease.  

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